A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231998



Internal ID22372391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133994369..134026478hg38UCSC Ensembl
Outerchr9:136859491..136891600hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289705, nssv14289703, nssv14289702, nssv14289706, nssv14289707, nssv14289704, nssv14289701
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesLINC00094
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231998
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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